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A reference panel of 64,976 haplotypes for genotype imputation
TLDR
A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
TLDR
A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
TLDR
It is shown that mutations within the profilin 1 (PFN1) gene can cause FALS, and cytoskeletal pathway alterations contribute to ALS pathogenesis.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
TLDR
A meta-analysis of six ulcerative colitis genome-wide association study datasets found many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1.
Multiple common variants for celiac disease influencing immune gene expression
TLDR
Variants from 13 new regions reached genome-wide significance and most contain genes with immune functions, with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.
Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA
TLDR
Natural human genetic variation is relied upon to identify effects of variants on trans-gene expression (expression quantitative trait locus mapping, eQTL) in whole peripheral blood from 1,469 unrelated individuals, supporting the concept that the effects of these SNPs on expression seems to be much less multifactorial.
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
TLDR
Findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP 3 variants in ALS.
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
TLDR
Evidence for an oligogenic aetiology of ALS is provided and may have important implications for the interpretation of whole exome/genome experiments designed to identify new ALS-associated genes and for genetic counselling, especially of unaffected family members.
Genome-wide association study of intracranial aneurysm identifies three new risk loci
TLDR
Two new loci showing strong evidence for association with intracranial aneurysms are identified and several putative risk genes play a role in cell-cycle progression, potentially affecting the proliferation and senescence of progenitor-cell populations that are responsible for vascular formation and repair.
Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
TLDR
Cognitive thinning of the primary motor cortex might be a diagnostic marker for upper motor neuron degeneration in ALS and relative thinning in temporal regions was associated with a rapidly progressive disease course.
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